developmental and epileptic encephalopathy 91
MONDO:0020630Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 91 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 6 of 6 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 4 of 6 reported patients
- HypotoniaHPOHP:0001252
- 4 of 6 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 4 of 6 reported patients
- Tonic seizureHPOHP:0032792
- 4 of 6 reported patients
- Absent speechHPOHP:0001344
- 3 of 6 reported patients
- Developmental regressionHPOHP:0002376
- 3 of 6 reported patients
- Epileptic spasmHPOHP:0011097
- 3 of 6 reported patients
- HypertelorismHPOHP:0000316
- 3 of 6 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 6 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 2 of 6 reported patients
Show the remaining 19
- Atypical absence seizureHPOHP:0007270
- 1 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 6 reported patients
- Coarse facial featuresHPOHP:0000280
- 1 of 6 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 6 reported patients
- Focal motor seizureHPOHP:0011153
- 1 of 6 reported patients
- Hoarse voiceHPOHP:0001609
- 1 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PPP3CAHGNC:9314
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: developmental and epileptic encephalopathy 91
- Also called
- DEE91epileptic encephalopathy, infantile or early childhood, 1